ARHGEF9

ARHGEF9
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2YSQ
Identifiers
Aliases	ARHGEF9 , COLLYBISTIN, EIEE8, HPEM-2, PEM-2, PEM2, Cdc42 guanine nucleotide exchange factor 9, DEE8
External IDs	OMIM: 300429; MGI: 2442233; HomoloGene: 9053; GeneCards: ARHGEF9; OMA:ARHGEF9 - orthologs
Gene location (Human) Chr. X chromosome (human) [1] Band Xq11.1 Start 63,634,967 bp [1] End 63,809,274 bp [1]
Gene location (Mouse) Chr. X chromosome (mouse) [2] Band X|X C3 Start 94,092,541 bp [2] End 94,240,462 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 46 prefrontal cortex Region I of hippocampus proper nucleus accumbens lateral nuclear group of thalamus parietal lobe superior frontal gyrus postcentral gyrus right frontal lobe dorsolateral prefrontal cortex Top expressed in superior frontal gyrus dentate gyrus of hippocampal formation granule cell primary visual cortex olfactory tubercle piriform cortex primary motor cortex cerebellar cortex lateral septal nucleus hippocampus proper globus pallidus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function guanyl-nucleotide exchange factor activity Cellular component cytoplasm cytosol postsynaptic density GABA-ergic synapse plasma membrane membrane cell junction synapse postsynaptic membrane Biological process positive regulation of apoptotic process regulation of Rho protein signal transduction regulation of small GTPase mediated signal transduction G protein-coupled receptor signaling pathway regulation of postsynaptic specialization assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23229 236915 Ensembl ENSG00000131089 ENSMUSG00000025656 UniProt O43307 Q3UTH8 RefSeq (mRNA) NM_001173479 NM_001173480 NM_015185 NM_001330495 NM_001353921 NM_001353922 NM_001353923 NM_001353924 NM_001353926 NM_001353927 NM_001353928 NM_001369030 NM_001369031 NM_001369032 NM_001369033 NM_001369034 NM_001369035 NM_001369036 NM_001369037 NM_001369038 NM_001369039 NM_001369040 NM_001369041 NM_001369042 NM_001369043 NM_001369044 NM_001369045 NM_001033329 NM_001290384 NM_001290385 RefSeq (protein) NP_001166950 NP_001166951 NP_001317424 NP_056000 NP_001340850 NP_001340851 NP_001340852 NP_001340853 NP_001340855 NP_001340856 NP_001340857 NP_001355959 NP_001355960 NP_001355961 NP_001355962 NP_001355963 NP_001355964 NP_001355965 NP_001355966 NP_001355967 NP_001355968 NP_001355969 NP_001355970 NP_001355971 NP_001355972 NP_001355973 NP_001355974 NP_001028501 NP_001277313 NP_001277314 NP_001392830 NP_001392831 NP_001392832 NP_001392833 NP_001392834 NP_001392835 NP_001392836 NP_001392837 NP_001392838 NP_001392839 NP_001392840 NP_001392841 NP_001392842 NP_001392843 NP_001392844 NP_001392845 NP_001392846 NP_001392847 Location (UCSC) Chr X: 63.63 – 63.81 Mb Chr X: 94.09 – 94.24 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

See also: Collybistin

Rho guanine nucleotide exchange factor 9 is a protein that in humans is encoded by the ARHGEF9 gene. ^{[5] [6] [7]}

Function

ARHGEF9 belongs to a family of Rho-like GTPases that act as molecular switches by cycling from the active GTP-bound state to the inactive GDP-bound state. These proteins are key regulators of the actin cytoskeleton and are involved in cell signaling.[supplied by OMIM] ^[7]

Interactions

ARHGEF9 has been shown to interact with GPHN ^[8] and SMURF1. ^[9]

References

1. GRCh38: Ensembl release 89: ENSG00000131089 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025656 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Reid T, Bathoorn A, Ahmadian MR, Collard JG (Dec 1999). "Identification and characterization of hPEM-2, a guanine nucleotide exchange factor specific for Cdc42". J Biol Chem. 274 (47): 33587–93. doi: 10.1074/jbc.274.47.33587 . PMID   10559246.
6. Ishikawa K, Nagase T, Nakajima D, Seki N, Ohira M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Feb 1998). "Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 4 (5): 307–13. doi: 10.1093/dnares/4.5.307 . PMID   9455477.
7. "Entrez Gene: ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9".
8. Kins S, Betz H, Kirsch J (2000). "Collybistin, a newly identified brain-specific GEF, induces submembrane clustering of gephyrin". Nat. Neurosci. 3 (1): 22–9. doi:10.1038/71096. PMID   10607391. S2CID   24878249.
9. Yamaguchi K, Ohara O, Ando A, Nagase T (Apr 2008). "Smurf1 directly targets hPEM-2, a GEF for Cdc42, via a novel combination of protein interaction modules in the ubiquitin-proteasome pathway". Biol. Chem. 389 (4): 405–13. doi:10.1515/BC.2008.036. PMID   18208356. S2CID   27505034.

External links

• Human ARHGEF9 genome location and ARHGEF9 gene details page in the UCSC Genome Browser .

Further reading

• Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, Nakai K, Sugano S (2004). "Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC   515316 . PMID   15342556.
• Harvey K, Duguid IC, Alldred MJ, Beatty SE, Ward H, Keep NH, Lingenfelter SE, Pearce BR, Lundgren J, Owen MJ, Smart TG, Lüscher B, Rees MI, Harvey RJ (2004). "The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering" (PDF). J. Neurosci. 24 (25): 5816–26. doi: 10.1523/JNEUROSCI.1184-04.2004 . PMC   6729214 . PMID   15215304.
• Grosskreutz Y, Hermann A, Kins S, Fuhrmann JC, Betz H, Kneussel M (2002). "Identification of a gephyrin-binding motif in the GDP/GTP exchange factor collybistin". Biol. Chem. 382 (10): 1455–62. doi:10.1515/BC.2001.179. PMID   11727829. S2CID   2415901.
• Kins S, Betz H, Kirsch J (2000). "Collybistin, a newly identified brain-specific GEF, induces submembrane clustering of gephyrin". Nat. Neurosci. 3 (1): 22–9. doi:10.1038/71096. PMID   10607391. S2CID   24878249.